A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients - Concepedia

Concepedia

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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients

13

Citations

13

References

2019

Year

Adila Al‐Kindi, Maryam Al-Shehhi, Ana Westenberger, Christian Beetz, Patrick Scott, Oliver Brandau, Lia Abbasi‐Moheb, Zafer Yüksel, Peter Bauer, Arndt Rolfs,

Journal of Human Genetics

Genetic DisorderGeneticsClinical PresentationPathologyNovel Poc1a VariantMedicineMolecular Medicine

References

	Year	Citations

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